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Pubmed for Handhelds

PUBMED FOR HANDHELDS

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  • Title: Deletion mapping of split hand/split foot malformation with hearing impairment: a case report.
    Author: Fukushima K, Nagai K, Tsukada H, Sugata A, Sugata K, Kasai N, Kibayashi N, Maeda Y, Gunduz M, Nishizaki K.
    Journal: Int J Pediatr Otorhinolaryngol; 2003 Oct; 67(10):1127-32. PubMed ID: 14550969.
    Abstract:
    Split hand/split foot malformation (SHFM), which typically appears as lobster-like limb malformation, is a rare clinical condition caused by a partial deletion of chromosome 7q. Hearing impairment sometimes accompanies syndromic SHFM cases; a case of inner and middle ear malformation with SHFM is described in this report. We conducted a genetic evaluation of this patient and found a deleted region that overlaps a previously reported locus of SHFM as well as a DFNB14 locus that can cause nonsyndromic hearing impairment by autosomal recessive inheritance.
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